ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3885C>T (p.Phe1295=)

gnomAD frequency: 0.00003  dbSNP: rs756251493
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001435560 SCV001638385 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-10-02 criteria provided, single submitter clinical testing

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